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Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
| Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| Autore | Moro Enrico |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (301 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
mucopolysaccharidosis IIIB
quantitative proteomics NAGLU lysosomes Gaucher disease bone involvement enzyme replacement therapy substrate reduction therapy Osteoimmunology RANK/RANKL Osteopontin MIP-1β mucolipidosis II sortilin TGF-beta cathepsin D Fabry disease alpha-galactosidase A endocytosis lysosome IGF2R/M6P clathrin chloroquine lysosomal diseases precision medicine pharmacological chaperones gene therapy Pompe disease lysosomal targeting autophagy muscle satellite cells rhGAA glycogen lysosomal α-glucosidase GAA biomarker Gaucher Disease Wnt/β-catenin Dkk1 Wnt3a iPSC neuronopathy Krabbe disease Twitcher mouse psychosine visual system visual cortex astrogliosis mucopolysaccharidosis type I Hurler syndrome hematopoietic stem cell transplantations animal models experimental therapies axon guidance lysosomal storage disorders neuronal circuit α-galactosidase A A4GALT globotriaosylceramide (Gb3) globotriaosyl-sphingosine (lysoGb3) pharmacological chaperone therapy exosomes endocytic pathways neurodegenerative disease Parkinson disease lysosomal storage disorder viral vectors newborn screening variant interpretation second tier test tandem mass spectrometry lyso-Gb3 dried blood spot GLA gene globotriaosylsphingosine biomarkers |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Lysosomal Storage Disorders |
| Record Nr. | UNINA-9910557545503321 |
Moro Enrico
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Newborn Screening for Cystic Fibrosis
| Newborn Screening for Cystic Fibrosis |
| Autore | Barben Jürg |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (126 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
newborn screening
immunoreactive trypsin(ogen) dried blood spot radioimmunoassay DNA cystic fibrosis incidence malnutrition cost health policy CF transmembrane conductance regulator-related metabolic syndrome CF screen positive inconclusive diagnosis DNA analysis next generation sequencing extended genetic analysis presumptive diagnosis sweat test parental information newborn bloodspot screening psychological impact biochemical screening pancreatitis associated protein immunoreactive trypsinogen cystic fibrosis screen positive inconclusive diagnosis (CFSPID) bioethics newborn screen target disorder missed case sensitivity CFSPID immunoreactive trypsin meconium ileus diagnosis therapy prognosis |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557291703321 |
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Barben Jürg
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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